Canonical Allele Identifier: CA1584790976
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751424918

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046307T>A , CM000667.2:g.136046307T>A GRCh38
NC_000005.9:g.135381996T>A , CM000667.1:g.135381996T>A GRCh37
NC_000005.8:g.135409895T>A NCBI36
NG_012646.1:g.22413T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-28T>A MANE Select ENSP00000416330.2:n.299-28T>A
ENST00000442011.6:c.299-28T>A ENSP00000416330.2:n.299-28T>A
ENST00000504185.5:n.456-28T>A
ENST00000506699.5:n.364-28T>A
ENST00000507018.5:c.216-28T>A
ENST00000515433.1:n.563T>A
NM_000358.2:c.299-28T>A NP_000349.1:n.299-28T>A
NM_000358.3:c.299-28T>A MANE Select NP_000349.1:n.299-28T>A